Varaico: Literature-Extracted Genetic Variants

Gene:NRAP
Variant:p.R1028H
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NRAP

NM_198060.4:p.R1028H

Associated Papers

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

Koskenvuo JW et al.

Plos One, 2021

33534821 (PubMed )
Supplement: pone.0245681.s001.xlsx › Sheet1

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."